rs1085307845, PHIP

N. diseases: 21
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Abnormal fear/anxiety-related behavior
CUI: C4018849
Disease: Abnormal fear/anxiety-related behavior
7 0.752 0.320 6 79025582 missense variant G/T snv 0.700 0
Arachnoid Cysts
CUI: C0078981
Disease: Arachnoid Cysts
6 0.752 0.320 6 79025582 missense variant G/T snv 0.700 0
Attention deficit hyperactivity disorder
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
420 0.752 0.320 6 79025582 missense variant G/T snv 0.700 0
Autistic Disorder
CUI: C0004352
Disease: Autistic Disorder
395 0.752 0.320 6 79025582 missense variant G/T snv 0.700 0
Cafe-au-Lait Spots
CUI: C0221263
Disease: Cafe-au-Lait Spots
32 0.752 0.320 6 79025582 missense variant G/T snv 0.700 0
Clinodactyly
CUI: C4551485
Disease: Clinodactyly
18 0.752 0.320 6 79025582 missense variant G/T snv 0.700 0
Constipation
CUI: C0009806
Disease: Constipation
57 0.752 0.320 6 79025582 missense variant G/T snv 0.700 0
Convergence Insufficiency
CUI: C0271379
Disease: Convergence Insufficiency
4 0.752 0.320 6 79025582 missense variant G/T snv 0.700 0
Delayed bone age
CUI: C0541764
Disease: Delayed bone age
14 0.752 0.320 6 79025582 missense variant G/T snv 0.700 0
Delayed menarche
CUI: C0949173
Disease: Delayed menarche
1 0.752 0.320 6 79025582 missense variant G/T snv 0.700 0
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
CUI: C4693860
Disease: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
17 0.752 0.320 6 79025582 missense variant G/T snv 0.700 0
Feeding difficulties in infancy
CUI: C2674608
Disease: Feeding difficulties in infancy
22 0.752 0.320 6 79025582 missense variant G/T snv 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.752 0.320 6 79025582 missense variant G/T snv 0.700 0
Growth delay
CUI: C0456070
Disease: Growth delay
40 0.752 0.320 6 79025582 missense variant G/T snv 0.700 0
Large for gestational age
CUI: C1848395
Disease: Large for gestational age
10 0.752 0.320 6 79025582 missense variant G/T snv 0.700 0
Mild Mental Retardation
CUI: C0026106
Disease: Mild Mental Retardation
56 0.752 0.320 6 79025582 missense variant G/T snv 0.700 0
Neurodevelopmental delay
CUI: C4022738
Disease: Neurodevelopmental delay
24 0.752 0.320 6 79025582 missense variant G/T snv 0.700 0
Range of joint movement increased
CUI: C1844820
Disease: Range of joint movement increased
46 0.752 0.320 6 79025582 missense variant G/T snv 0.700 0
recurrent muscle twitches (symptom)
CUI: C2169806
Disease: recurrent muscle twitches (symptom)
7 0.752 0.320 6 79025582 missense variant G/T snv 0.700 0
Sleep disturbances
CUI: C0037317
Disease: Sleep disturbances
74 0.752 0.320 6 79025582 missense variant G/T snv 0.700 0
Trichotillomania
CUI: C0040953
Disease: Trichotillomania
7 0.752 0.320 6 79025582 missense variant G/T snv 0.700 0